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A Novel PAX6 Mutation in a Patient with Nonsyndromic Dominant Foveal Hypoplasia and Congenital Nystagmus.

Background: Foveal hypoplasia is a disorder in which the fovea does not develop normally. It is commonly associated with congenital nystagmus and other developmental conditions, such as aniridia and albinism. Case Report: We examined a 15-year-old female who presented with foveal hypoplasia and cong...

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Published in:Optometry & Visual Performance Vol. 7; no. 5/6; pp. 323 - 327
Main Authors: Vezinaw, Chloe M., Fishman, Gerald A., John Chiang
Format: case study diagnostic images pictorial tables/charts Journal Article
Published: Optometric Extension Program Dec2019
Online Access:View this record in EBSCOhost
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        23253479
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      jtl: Optometry & Visual Performance
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    pubinfo:
      dt: Dec2019
      vid: 7
      iid: 5/6
      pid: 46881
      pub: Optometric Extension Program
      place: Lutherville Timonium, Maryland
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        atl: A Novel PAX6 Mutation in a Patient with Nonsyndromic Dominant Foveal Hypoplasia and Congenital Nystagmus.
      aug:
        au:
          Vezinaw, Chloe M.
          Fishman, Gerald A.
          John Chiang
        affil: The Pangere Center for Inherited Retinal Diseases, The Chicago Lighthouse
      sug:
        subj:
          Mutation
          Nystagmus, Congenital Etiology
          Retina Abnormalities
          Adolescence
          Female
          Genetic Screening
          Anterior Eye Segment Abnormalities
          Cataract Pathology
          Tomography, Optical Coherence
          Vision Tests
          Gene Expression
          Adolescent: 13-18 years
          Female
      ab: Background: Foveal hypoplasia is a disorder in which the fovea does not develop normally. It is commonly associated with congenital nystagmus and other developmental conditions, such as aniridia and albinism. Case Report: We examined a 15-year-old female who presented with foveal hypoplasia and congenital nystagmus in the absence of any systemic or anterior segment abnormalities. Genetic testing showed a novel PAX6 missense mutation. Conclusion: This report highlights a case of autosomal dominant, isolated foveal hypoplasia with a novel PAX6 mutation without any anterior segment anomalies.
      pubtype: Academic Journal
      doctype:
        case study
        diagnostic images
        pictorial
        tables/charts
        Journal Article
      ougenre: Article
    language: English
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